Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Trp515Leu (p.W515L)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Thrombocythemia, Essential
- Source Database
- DisGeNET
- Description
- The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia.
- Pubmed
- 19261614
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.288954139976145
- Year of publication
- 2009
Drugs